Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
The aim of the study is to describe patients with a high bone mass phenotype due to a mutation in the low density lipoprotein l receptor 5 gene (LRP5) and compare them with age and sex matched controls. Moreover, bone density and microarchitecture as well as markers of bone metabolism are evaluated
Cases and controls are closely matched on age and sex and evaluated cross-sectionally.
Dual x-ray absorptiometry (DXA) and high resolution peripheral quantitative computed tomography (HR-pQCT) are used in order to evaluate bone density as well as microarchitecture. Bone turnover markers and body composition are also measured.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with mutation in the Lrp5 gene | Patients known to have a mutation in Lrp5 known to be causing a high bone mass phenotype |
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| Bone microarchitecture as assessed by high resolution quantitative computed tomography (HR-pQCT) | HR-pQCT is used to evaluate bone microarchitecture, i.e. bone trabeculae, cortical thickness and trabecular number. Aim is to test if the microarchitecture of these patients are different that observed in normal controls | 12 weeks |
| Measure | Description | Time Frame |
|---|---|---|
| Changes in bone turnover markers | Markers of bone resorption and formation are investigated. | 12 weeks |
| Bone mineral density | DXA is used to evaluate bone mineral density at total hip, spine, whole body and forearm. |
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Case-control study on almost 40 individuals
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Kim Brixen, Professor | Odense University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Odense University Hospital, Osteoporosis Clinic | Odense | 5000 | Denmark |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 20200960 | Result | Frost M, Andersen TE, Yadav V, Brixen K, Karsenty G, Kassem M. Patients with high-bone-mass phenotype owing to Lrp5-T253I mutation have low plasma levels of serotonin. J Bone Miner Res. 2010 Mar;25(3):673-5. doi: 10.1002/jbmr.44. |
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D010022 | Osteopetrosis |
| C536056 | Osteopetrosis autosomal dominant type 1 |
| ID | Term |
|---|---|
| D010026 | Osteosclerosis |
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
Serum, plasma, DNA as well as fat and skin biopsies
| 12 weeks |
| D009140 |
| Musculoskeletal Diseases |